Unleashing a new frontier: The power of germline clinico-genomic data to drive therapeutic development

Over the past decade, the use of deeper sources of real-world data across all stages of the drug development life cycle has become increasingly important to guide disease understanding, trial designs, clinical guidelines, regulatory submissions and post-market studies. The advent of these deeper sources was prompted by the HITECH Act, which had the effect of digitizing a significant portion of the medical records in the United States. The use of these datasets is typically referred to as secondary use, meaning these data were created for a primary purpose — to document a patient’s health or for billing.

Real-world evidence: A valuable resource for precision medicine and drug development

This widespread availability of real-world data offers an invaluable resource for drug development and commercialization. By leveraging these data, researchers and healthcare professionals gain insights into patient outcomes and treatment effectiveness beyond traditional clinical trials. Real-world evidence (RWE) provides a comprehensive view of patient experiences in real-life clinical settings, enabling a deeper understanding of diseases, treatments, and their impact on different populations. With the rapid growth of Next-Generation Sequencing (NGS) and the integration of genetic data and clinical data, clinico-genomic data holds immense potential to optimize target discovery, better understand complex disease mechanisms, and enable the development of targeted therapeutics with better safety and efficacy profiles. By leveraging real-world data and genomics, precision medicine has the potential to revolutionize patient care and bring us closer to a future of personalized, tailored treatments.

Bridging the gap: Challenges and opportunities

One major limitation is that the availability of real-world evidence lags behind the current treatment paradigm. Said in another, more obvious way, if a treatment or measurement was not captured within the context of routine patient care, it would not be observed in an RWE dataset. The field of oncology serves as an instructive case study. It has taken decades and multiple approvals of targeted therapies to eventually justify more widespread use of whole exome sequencing (WES) or whole genome sequencing (WGS) in a clinical setting. Today we are seeing a massive wave of new therapies outside of oncology entering pharmaceutical pipelines, a significant portion of which use genomics as a selection or stratification criteria.

Without widespread clinical adoption of genetic sequencing, researchers have turned to three categories of alternative sources for genomic insights:

1. National registries.
2. Academic medical center biobanks.
3. Secondary use of diagnostic testing data.

While helpful, these sources are not nearly enough to move the needle and come with significant limitations in terms of size, depth and flexibility of the data. This topic is worthy of a deeper discussion and we’ll cover it in more detail shortly in a future post.

Building a new category

Helix is actively building a more sustainable model of creating and curating germline clinico-genomic data by fully integrating with health systems to implement precision medicine programs at scale as part of routine clinical care. Helix’s industry-leading WES platform (Exome+) combined with consented, OMOP standardized EHR data provides life science partners unparalleled research access to comprehensive, scaled, longitudinal clinico-genomic data that would otherwise take years to accumulate, if at all.

Through our existing partnerships, Helix aims to add the equivalent of a UK Biobank-sized cohort to our Research Network each year in perpetuity. With this rich data, life science researchers can conduct innovative analyses/studies in a wide range of therapeutic areas including cardiometabolic diseases, neurodegenerative conditions, autoimmune disorders and more to drive drug discovery and development.

The use of real-world data in precision medicine is transforming the way we approach drug development and patient care. With the availability of deeper sources of data, researchers and healthcare professionals can gain valuable insights into patient outcomes and treatment effectiveness.

Hylton Kalvaria is the senior vice president of life sciences at Helix where he is responsible for overseeing partnerships that leverage Helix’s unique and expanding clinico-genomic datasets with life sciences customers. His mission is to accelerate the development of innovative, personalized therapies by utilizing real-world data and Helix’s extensive health systems network. He is driven by a passion for making a positive impact on the healthcare ecosystem and believes in the power of genetic approaches to drug development, aiming to bring personalized therapies to patients faster and more efficiently. 

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Filed Under: Drug Discovery and Development, Genomics/Proteomics, Rare disease
Tagged With: drug development, genomics, Helix, personalized treatments, precision medicine, real-world evidence, targeted therapeutics
 

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